TTN c.85110dup ;(p.A28371Sfs*6)

Variant ID: 2-179425748-C-CT

NM_001267550.1(TTN):c.85110dup;(p.A28371Sfs*6)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Molecular Genetics & Genomic Medicine
Park, Jihye J; Oh, Hyun Mi HM; Park, Hye Jung HJ; Cho, Ah-Ra AR; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Jang, Dae-Hyun DH
Publication Date: 2019-10

Variant appearance in text: TTN: 85108dup
PubMed Link: 31475473
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00947.pdf
View BVdb publication page